Polycythemia treatment. Polycythemia vera. When to see a doctor

Hematologist

Higher education:

Hematologist

Samara State Medical University (SamSMU, KMI)

Level of education - Specialist
1993-1999

Additional education:

"Hematology"

Russian Medical Academy of Postgraduate Education

Polycythemia (erythremia, Vaquez disease, erythrocytosis) is a rare type of leukemia. It is characterized by an excessive concentration of red blood cells in the blood. Pathology can be primary or secondary – arising under the influence of certain factors. In fact, these are only symptoms, not independent diseases. But both forms of polycythemia are quite serious conditions, threatening serious consequences and complications dangerous to health and life.

Polycythemia - what is it?

With erythremia, the concentration of red blood cells and, accordingly, hemoglobin in the blood increases. Red blood cells are produced in the bone marrow. Erythropoietin, a hormone that is secreted to a greater extent in the kidneys and to a lesser extent in the liver, takes an active part in the process. The development of the primary (true) form of pathology is caused by internal problems in the secretion of red blood cells and is observed relatively rarely.

Typically, the occurrence of erythremia provokes the progression of concomitant diseases - this is secondary polycythemia. The forms of the disease vary in severity and depending on the mechanisms of development of disorders in the hematopoietic organs. Polycythemia vera is a consequence of a benign bone marrow tumor, the development of which is caused by the proliferation of immature red blood cells. The formation of a secondary form of pathology is influenced by circumstances that contribute to blood thickening:

dehydration of the body (diarrhea, periodic massive vomiting);
oxygen deficiency (being in the mountains, hot weather, high body temperature).

Oxygen and water starvation forces the body to make up for the deficiency through increased secretion of red blood cells. They are able to perform their functions, their volume and shape are within normal limits. Polycythemia vera is characterized by a large number of cells that do not correspond to the norm in size and shape, that is, unnecessary to the body. Tumor growth is associated with two sets of cells:

developing from precursor cells autonomously, as a result of gene mutation;
depending on the influence of erythropoietin, which regulates the production of red blood cells.

The action of erythropoietin is activated when secondary erythremia is “connected” to the development of the neoplasm. “Extra” red blood cells thicken the blood, increasing the risk of blood clots. Their excessive accumulation in the spleen, which is not capable of destroying such a number of aged red blood cells, leads to an enlargement of the organ.

Reasons for the development of polycythemia

Excessive secretion of red blood cells is usually secondary. But there are regions (for example, Chuvashia) in which cases of familial erythremia, inherited in an autosomal recessive manner, are registered (polycythemia vera occurs only in homozygotes who received one recessive gene from each parent). The main causes of the secondary form of erythremia are oxygen starvation of tissues (congenital and acquired) and high levels of erythropoietin in the blood. The concentration of the hormone can increase due to oxygen deficiency:

pulmonary pathologies (emphysema, bronchitis);
increased pulmonary vascular resistance;
insufficient ventilation of the lung or its lobe;
heart failure;
sleep apnea syndrome;
poor blood supply to the kidneys;
frequent stay in the high mountain zone.

Excessive amounts of erythropoietin are secreted by certain neoplasms:

liver;
adrenal glands;
kidney;
uterus.

An increase in the production of erythropoietin is sometimes caused by kidney obstruction and liver cysts, and regular exposure of organ tissue to carbon monoxide (tobacco smoking). Polycythemia in newborns is often transmitted from the mother through blood transfusion or through the placenta. Prolonged intrauterine hypoxia can also provoke the development of erythremia in newborns.

Relative polycythemia is a pathology in which the level of red blood cells in the blood increases due to dehydration. The number of red blood cells does not change - the volume of plasma (the liquid part of the blood) decreases, increasing the specific concentration of other blood components. Heavy physical work and psycho-emotional stress can cause so-called stress polycythemia, which is typical for middle-aged men. In this condition, the number of cells also does not change, and the volume of the liquid part of the blood decreases.

Signs of Vaquez disease

True polycythemia, like secondary polycythemia, proceeds extremely slowly, therefore manifestations of the pathology are often weakly expressed or completely absent. Symptoms of polycythemia are usually nonspecific:

absent-mindedness, weakness, tinnitus (lack of vital substances and oxygen in the cerebral vessels);
dizziness, heaviness in the head, headaches (stagnation of blood in the vessels of the brain associated with its increased viscosity);
vision problems (oxygen and nutrient deficiency);
redness of the sclera of the eyes, mucous membranes, skin (accumulation of red blood cells in the superficial capillaries);
cyanosis of the skin (accumulation of hemoglobin combined with carbon dioxide in the tissues);
itching (high concentration of unconjugated bilirubin in the blood);
short-term severe pain in the fingertips (formation of small blood clots in the capillaries).

With further development of polycythaemic syndrome, the following is noted:

enlargement of the liver and spleen;
pain in the center of the sternum;
rapid heartbeat;
pain in the bones;
high blood pressure;
blood clot formation;
acute disturbance of cerebral blood supply;
severe shortness of breath;
signs of a heart attack;
Mitchell syndrome;
numbness and coldness of the extremities;
peptic ulcer;
flatulence;
negative changes in peripheral blood vessels.

Diagnosis of polycythemia

Diagnosis of pathology is carried out by a hematologist. Moreover, it is based on characteristic signs combined into syndromes: plethoric ( due to excess blood in organs and tissues) and myeloproliferative (due to excessive bone marrow activity). The presence of polycythemia is indicated by increased blood levels of:

red blood cells (significant increase);
platelets (sometimes normal);
leukocytes (mainly neutrophils);
reticulocytes (immature red blood cells);
hemoglobin (a protein carried by red blood cells);
vitamin B 12.

There may be an increase in hematocrit - the ratio of the volume of red blood cells to the total volume of blood. Polycythemia vera is characterized by a low level of erythropoietin in the blood; in the secondary form of the pathology, it is normal or increased.

Therapy for erythremia

In benign cases of Vaquez's disease, phlebotomy (bloodletting) is sometimes prescribed. It is carried out every three days until the concentration of hemoglobin and red blood cells returns to normal. Phlebotomy usually removes up to 400 ml of blood. Half an hour before the procedure, Heparin is administered intravenously to prevent the formation of blood clots and reduce blood viscosity.

Currently, bloodletting is losing ground, since there is a more effective method of removing excess red blood cells from the body - erythrocytapheresis. Using a hardware method, all red blood cells are removed from the blood (500-700 ml). Plasma and other blood components return to the bloodstream.

All methods of removing red blood cells from the blood are combined with the use of cytostatics (Imiphos, Myelobramol) - drugs that inhibit the excessive formation of cells (including bone marrow tumor cells). The doctor prescribes a medication based on the clinical picture of the pathology and laboratory tests.

In addition to the use of cytostatic agents, doctors are increasingly resorting to the use of radioactive phosphorus. It accumulates in the bones, locally affecting the bone marrow. The drug significantly reduces the rate of blood formation (especially red blood cells). As a rule, the drug is taken 3-4 times a day for a week. But the method has contraindications. Radioactive phosphorus cannot be used, for example, in case of serious damage to the kidneys and liver.

Hydroxyurea is widely used to treat pathologies. This inhibitor is recommended for patients susceptible to thrombosis (over 70 years of age, high platelet concentration, presence of pathologies of the heart and blood vessels).

Polycythemia: home treatment

To adjust the content of red blood cells in the blood, you need to exclude eggs, milk and dairy products, and red meat from the diet. You should give up bad habits. Drinking even small amounts of alcohol increases the likelihood of blood clots in the coronary vessels. Drugs negate drug therapy, and smoking increases blood pressure. In Vaquez disease, this habit can cause sudden cardiac arrest.

To increase the effectiveness of treatment for polycythemia, the menu will come in handy:

river fish (carp, pike perch, catfish);
legumes (peas, beans);
fruits (apricots, bananas, grapes);
vegetables (sauerkraut).

Sweet clover decoction is widely used to thin the blood. A teaspoon of herb is poured into a glass of boiling water, filtered and drunk half a glass three times a day. Cranberry tea also thins the blood well. Fresh and dry berries are suitable for brewing. Pour two tablespoons of berries with a glass of boiling water, cover and leave for about twenty minutes. Drink without restrictions, you can add honey. Decoctions prepared on the basis of:

horse chestnut flowers;
periwinkle;
mushroom herb;
nettle;
burial ground.

Prevention of polycythemia

Most of the causes of polycythemia do not depend on the patient’s lifestyle. However, simple recommendations will help to delay or reduce the manifestations of pathology:

quit smoking;
drink enough fluids to prevent dehydration;
timely treatment of chronic pathologies of internal organs;
control body weight;
devote time to physical exercise.

Physical activity is not limited, but with an enlarged spleen, the patient needs to give up contact sports to avoid injury to the organ and its rupture. You should monitor your intake of iron supplements - they promote increased production of red blood cells.

Polycythemia is characterized by benign development, but the pathology is sometimes accompanied by serious complications. One of them is embolism of blood vessels of vital organs (liver, lungs, heart, brain), which can provoke a stroke or infarction of internal organs. If symptoms of pathology appear, it is necessary to undergo a medical examination.

19.10.2017

Vaquez disease, otherwise called polycythemia vera, is a chronic benign pathology. A feature of the form is an increase in the number of red blood cells, viscosity and hematocrit of the blood.

A doctor is able to recognize erythrocytosis in a patient by external examination - the face acquires a rich red tint, evenly distributed over the entire surface of the skin. The condition does not go away on its own (as in the case of emotional stress, menopausal hot flashes or exposure to heat), but requires treatment.

Causes of polycythemia

Treatment of erythrocytosis is mandatory, since otherwise the condition leads to thrombosis and serious conditions. The disease is often detected in men over 60 years of age. The pathology is not considered common, occurring in 1 in 25 thousand people.
The exact cause of the pathology has not yet been established; there is an assumption that genetic abnormalities are to blame. The cause of the problem has not yet been identified.

Provoking factors that favor the development of primary polycythemia include:

ionizing, x-ray irradiation;
long-term use of certain medications;
contact with paints and other toxic substances;
surgical operations;
stress;
tuberculosis, as well as intestinal and viral infections.

Secondary polycythaemic disease develops under the influence of the following reasons:

reduction of 2,3-diphosphoglycerate;
increased affinity of hemoglobin for oxygen;
autonomous synthesis of erythropoietin;
for smoking, lung diseases, heart defects, etc.;
hydronephrosis, cyst, arterial stenosis and other kidney diseases;
uterine fibroma, bronchial carcinoma, cerebellar hemangioblastoma and other tumors;
endocrine pathologies;
hepatitis, cirrhosis and other liver diseases.

Symptoms of erythrocytosis

If polycythemia is suspected, symptoms and treatment are determined by the doctor based on the patient’s complaints and diagnostic results. Pathology is manifested by ailments:

deterioration of hearing and vision;
memory impairment;
increased sweating;
constant feeling of weakness;
low performance;
dizziness and headache.

As it develops, polycythemia vera causes pain in the fingers due to blockage of small vessels, pain in the limbs, itching throughout the body due to, and at times a rash appears on the skin due to impaired blood circulation. In the future, polycythemia symptoms show the following:

capillaries dilate, mucous membranes become red;
there is a feeling of angina pectoris;
platelets accumulate in the enlarged spleen, discomfort occurs under the rib;
an enlarged liver may hurt;
urination causes pain in the lumbar region;
proliferation of bone marrow leads to pain in joints and bones;
bleeding from the gums and nose appears;
immunity decreases, as a result infectious and inflammatory processes develop;
disruptions in the functioning of the central nervous system - insomnia, memory problems, in the form of cerebral hemorrhages.

Stages of polycythemia

True polycythemia does not occur immediately; the disease develops gradually, with signs appearing progressively. Doctors distinguish three stages of pathology:

Lasts 5 or more years. The size of the spleen is within normal limits; the CBC reveals a slight increase in the number of red blood cells. The bone marrow produces more red blood cells and other cells, but not lymphocytes. There are practically no complications in the initial stage.
It is divided into 2 substages: the first is called polycythemic and is written II A, the second is called polycythemic with myeloid metaplasia in the spleen and is written II B.

The first of these forms lasts 5-15 years. Characteristic manifestations will be: enlarged spleen and liver, thrombosis and bleeding, plethoric syndrome. At the same time, tumor growth is not detected in the spleen. A blood test reveals a lack of iron, which is explained by frequent bleeding. In the CBC there is an increase in the number of all types of blood cells, and in the bone marrow there are cicatricial disorders.

The second form is characterized by an increased volume of the liver and spleen, and the pathological condition progresses. A tumor process is noticeable in the spleen, the patient is diagnosed with exhaustion of the body, thrombosis, bleeding.

The CBC results show an increase in blood cells, but not lymphocytes. Red blood cells vary in size and shape, and there are many immature blood cells. Cicatricial changes in the bone marrow increase.

The final stage or anemic stage develops approximately 15-20 years from the onset of the disease and is characterized by a significant increase in the size of the spleen and liver. Global cicatricial changes are detected in the bone marrow, circulatory disorders are present, the number of leukocytes, erythrocytes and platelets decreases. At this stage of development, the disease can transform into a chronic / acute form of leukemia.

Despite its severe course, polycythemia vera does not have a bad prognosis. A person with such a diagnosis can live for a couple of decades, and given the diagnosis of the disease after 60 years, this is a normal period. An important factor influencing life expectancy is the form of leukemia into which polycythemia vera transforms.

Diagnosis of erythrocytosis

The doctor makes an accurate diagnosis based on the results of laboratory tests. In a general analysis, pathology is identified by the following indicators:

hemoglobin level – about 180 g/l;
the norm of red blood cells is exceeded;
the ratio of red blood to plasma exceeds the normal value;
the size of leukocytes and platelets is increased, as is their number;
ESR is below normal or equal to zero.

Polycythemia vera is not always accompanied by a change in the shape of red blood cells; in some cases they do not deviate from the norm, but blood cells of different sizes can be detected. The severity of the pathology and the approximate prognosis can be assessed by platelets. A large number of them indicates a severe course of the disease.

In addition to a general laboratory blood test, you need to undergo the following tests:

radiological. Allows you to estimate the number of circulating red blood cells in the blood;
biochemical research. Allows you to detect the level of alkaline phosphatase and uric acid. As a rule, the amount of urea in the blood is much higher than normal during polycythemia. This indicates that the pathology has led to a complication such as gout;
trepanobiopsy. You will need biomaterial from the ilium, which is sent for histological examination. Thanks to the analysis, it is possible to accurately diagnose polycythemia;
sternal puncture. You will need bone marrow taken from the sternum. He is sent for cytological examination;
Ultrasound of organs in the abdominal cavity. Ultrasound examination can reveal abnormalities in the condition of the liver and spleen, an increase in their size, etc.

Treatment of polycythemia

With a form of erythrocytosis such as polycythemia, treatment is carried out using myelosuppressive therapy. Considering the effect of drugs on the body, they are prescribed after diagnosis. The doctor will take into account the patient’s age and presence of other diseases, hematological parameters, and the presence of certain symptoms.

You can choose a treatment for polycythemia, if possible, a gentle one. Strong drugs are prescribed only in cases of severe stage of the disease.

Phlebotomy (bloodletting) is sometimes the only option to alleviate the condition of a sick person. The procedure is performed only for those under 40 years of age. At the beginning of such therapy, 500 ml of blood is taken from the patient every other day. In extreme cases, an elderly patient can undergo the procedure, then half as much blood is taken, only 2 times a week.

Bloodletting is continued until tests confirm a decrease in the number of red blood cells. At the end of the procedure, a hematocrit test is performed once a month, and if such a need arises, phlebotomy is used again. Another indication for the procedure will be surgery.

Myelosuppressive therapy is the treatment of polycythemia vera with drugs. Therapy is indicated for thrombosis, uncontrolled itching and metabolic syndrome. An indication may be advanced age and poor health after phlebotomy.

Drugs for myelosuppressive therapy are:

Anagrelide. A relatively modern medicine, the properties of which have not yet been fully studied. With a stable course of the pathology, the medicine is well tolerated. It is believed that it can be taken long-term because it does not provoke leukemia. Among the side effects from taking the drug, patients more often noted headache, tachycardia and fluid retention in the body. To eliminate the risk of side effects, treatment begins with minimal doses, gradually increasing them;
Radioactive phosphorus. Prescribed in most cases. Gives stable remission for six months or more. Taking the drug increases the risk of developing leukemia that cannot be treated with chemotherapy. Doctors prefer to prescribe radioactive phosphorus to patients who have a poor prognosis - more precisely, those who may die within a few years;
Interferon is prescribed subcutaneously 3 times a week instead of Hydroxyurea;
Hydroxyurea has been used in treatment for a long time, but the properties of the drug have not been fully studied. Before prescribing this drug, doctors perform bloodletting on the patient. The medicine is administered once a day, and a blood test must be taken weekly.

When a person’s condition improves during therapy, tests do not need to be taken so often - first they take them after 2 weeks, then after 4. After the number of platelets and leukocytes in the blood is normalized, Hydroxyurea is discontinued.

After the break, treatment is resumed, reducing the dosage within the required limits. In case of severe pathology and the need for frequent bloodletting, the dosage of the medication is increased monthly by several mg. Usually, side effects are rarely detected. This could be a skin rash, a malfunction of the gastrointestinal tract, ulcers on the skin, fever, or deterioration of the nails. If there are adverse reactions, treatment with the drug is stopped.

Some drugs that are prescribed during myelosuppressive therapy can provoke the development of leukemia, which is why it is best to avoid their use if possible.

The use of erythrocytapheresis in treatment

When prescribing drugs for myelosuppressive therapy and during bloodletting, it is advisable to take acetylsalicylic acid daily to reduce the risk of blood thickening and blood clots. Before taking, you need to make sure that there are no contraindications.

Erythrocytepheresis is a procedure in which 1-1.5 liters of blood is taken from the patient, after which red blood cells are removed from it using special equipment. The resulting plasma is diluted with saline to return to its original volume and then returned to the patient. This procedure is an alternative to bloodletting and is performed once every few years.

During the treatment of polycythemia vera, medications are prescribed aimed at eliminating and preventing possible complications. These are the medications:

Allopurinol is a drug that will reduce the amount of uric acid in the blood;
antihistamines for itchy skin. Considering that such medications do not help in every case, myelosuppressive therapy remains the only option. After water hygiene procedures, patients with itching are advised to wipe themselves as carefully as possible, without irritating the skin;
Aspirin is prescribed for severe dilation of small blood vessels in the extremities, which is accompanied by pain.

Only after the number of platelets in the blood has decreased is surgery prescribed, if the doctor sees the need.

Medical nutrition

In addition to medications, the doctor gives prescriptions for correcting the patient’s diet and lifestyle. The choice of diet depends on the stage of the pathology:

at the first stage of polycythemia, all products are allowed except those that enhance hematopoiesis;
at the second stage, meat and fish, sorrel and legumes are limited or completely abandoned. And after the patient is discharged from the hospital home, you need to follow the recommendations received from the doctor and regularly come for examinations.

Fans of traditional medicine have nothing to please - it will not be possible to cure blood diseases with herbs. Yes, there are plants that increase hemoglobin levels and thin the blood, but there are none that can help cope with erythrocytosis. Therefore, it is better not to try to cure yourself, so as not to make things worse. An important condition for maintaining health is timely consultation with a doctor and competent therapy. The future prognosis depends on this.

People with this diagnosis need to monitor their health not only when they feel worse, but constantly, even when it seems that everything is fine. Health control involves regular testing and examination.

As such, there is no prevention against polycythemia, since medicine has not yet developed methods to prevent gene mutation. But this is not a reason to refuse to maintain your own health at its best.

Erythremia (polycythemia vera, Vaquez disease) is a hereditary disease of the blood system, occurring mainly in older women.

Increased red blood cell count in polycythemia vera

This pathology is characterized by malignant bone marrow hypertrophy. Most often, this pathology is known to patients as blood cancer (although such a judgment is erroneous) and leads to a progressive increase in the number of blood cells, primarily red blood cells (the number of other elements also increases). As a result of an increase in their number, an increase in hematocrit is observed, which leads to a decrease in the rheological properties of blood, a decrease in the speed of blood flow through the vessels, and, as a consequence, an increase in thrombus formation and a deterioration in tissue supply.

These reasons lead to the fact that most tissues experience oxygen starvation, which reduces their functional activity (ischemic syndrome). Polycythemia vera occurs mainly in women. Men get sick somewhat less frequently; the incidence of this pathology is approximately 3:2.

On average, Vaquez disease occurs around 40 years of age, with symptoms peaking between 60 and 70 years of age. There is a hereditary predisposition to the disease. In the population, erythremia is quite rare - about 30 cases per million population.

Main symptoms of the disease

Erythremia is an excessive saturation of the blood with red blood cells, which leads to various tissue and vascular disorders. Among the most common symptoms are:

Change in skin color. The main reasons are blood stagnation and hemoglobin restoration. Due to reduced blood flow, red blood cells remain in one place longer, which leads to the restoration of the hemoglobin they contain, and as a result, a change in the color of the skin. Patients suffering from this disease have a characteristic appearance - a reddened face and intensely cherry-colored neck. In addition, visible swollen veins are clearly visible under the skin. When studying the mucous membranes, one can observe a characteristic Kuperman symptom - a change in the color of the soft palate while the color of the hard palate remains unchanged.
Itching. This syndrome develops due to an increase in the number of immune cells that have the ability to release specific inflammatory mediators, in particular serotonin and histamine. Itching intensifies after mechanical contact (most often after a shower or bath).
Erythromelalgia - discoloration of the distal phalanges of the fingers with the appearance of pain. This syndrome is caused by an increased content of platelets in the blood, which leads to clogging of small capillaries of the distal phalanges, the development of an ischemic process and pain in their tissues.
Spleno- and hepatomegaly. An increase in these organs is observed in most hematological diseases. If a patient develops erythremia, then the increased concentration of cells in the blood can lead to increased blood flow in these organs, and as a result, their enlargement. This can be determined by palpation or instrumental studies. Megalia syndrome is eliminated on its own after the hemogram parameters are normalized, that is, when the blood test returns to normal.
Thrombosis. Due to the high concentration of cells in the blood and decreased blood flow, a large number of blood clots form in places where the vascular intima is damaged, which leads to blockage of blood vessels in all parts of the body. The development of thrombosis of mesenteric, pulmonary or cerebral vessels is especially dangerous. In addition, blood clots in small vessels of the gastric mucosa lead to a decrease in its protective properties and the appearance of gastritis and ulcers. DIC syndrome may also occur.
Pain. It can develop as a result of vascular disorders, for example, with obliterating endarteritis, and as a result of certain metabolic disorders. With polycythemia, there may be an increase in the level of uric acid in the blood and its deposition in the joint area. In rare cases, pain occurs when percussion or tapping of flat bones containing bone marrow (due to its hyperplasia and stretching of the periosteum).

Among the general symptoms, if erythremia occurs, headache, dizziness, a feeling of heaviness in the head, tinnitus, general weakness syndrome come first (all symptoms are caused by decreased tissue oxygenation, impaired blood circulation in certain parts of the body). When diagnosing, they are not used as mandatory criteria, since they can correspond to any systemic disease.

Stages and degrees of polycythemia

Polycythemia vera occurs in three stages (phases):

stage of initial manifestations. At this stage, the patient does not make specific complaints. He is worried about general weakness, increased fatigue, and a feeling of discomfort in the head. All these symptoms are most often attributed to overwork, social and life problems, which is why the disease itself is diagnosed quite late;
advanced stage (clinical stage). This stage is characterized by the appearance of headaches and changes in the color of the skin and mucous membranes. Pain syndrome develops quite late and indicates advanced disease;
terminal stage. At this stage, damage to internal organs due to ischemia and dysfunction of all body systems are maximally manifested. Death may occur due to secondary pathology.

All stages proceed sequentially, and diagnosis of the disease (blood test) becomes informative from the stage of clinical signs.

Diagnosis of Vaquez disease

To make a diagnosis, a general blood test plays a decisive role. It exhibits pronounced erythrocytosis, an increase in hemoglobin levels and hematocrit. The most reliable is the analysis of bone marrow punctate, which reveals signs of hyperplasia of the erythroid germ, and also calculates how many cells are present in it and what is their morphological distribution.

To clarify the nature of the concomitant pathology, it is recommended to conduct a biochemical analysis, which provides information about the condition of the liver and kidneys. In case of massive thrombosis, the state of blood coagulation factors is assessed by analyzing its coagulability - a coagulogram.

Other studies (ultrasound, CT, MRI) provide only an indirect idea of the state of the body and are not used in making a diagnosis.

Treatment of erythremia

Despite the variety and severity of the manifestations of Vaquez disease, there are relatively few treatments for it. It depends on what the hemogram analysis showed, whether a cytological syndrome has developed and what symptoms the patient has.

As mentioned above, the disease is caused by an increased concentration of blood cells (especially red blood cells), which develops due to bone marrow hyperplasia. In this regard, a correct analysis of the paths of disease development allows us to determine the basic principles of pathogenetic treatment, which include reducing the number of blood cells and acting directly on the sites of their formation. This is achieved through the following treatment methods:

Such treatment should be accompanied by the prescription of antiplatelet drugs such as aspirin, chimes, clopidogrel or anticoagulants (heparin). The use of these drugs with one of the procedures significantly increases the effectiveness of therapy than using them separately.

It is also recommended to add some cytostatic drugs to the treatment regimen (if the cause of bone marrow hyperplasia is cancer), interferons (if secondary viral complications develop) or hormones (mainly dexamethasone and prednisolone are used), which can improve the prognosis of the disease.

Complications, consequences and prognosis

All complications of the disease are caused by the development of vascular thrombosis. As a result of their blockage, infarctions of internal organs (heart, liver, spleen, brain), obliterating atherosclerosis (when thrombosis of the vessels of the lower extremities affected by atherosclerotic plaques) can develop. Excess hemoglobin in the blood provokes the development of hemochromatosis, urolithiasis or gout.

All of them develop secondaryly and require elimination of the underlying cause - erythrocytosis, for the most effective treatment.

As for the prognosis of the disease, much depends on the age at which treatment was started, what methods were used, and whether they were effective.

As mentioned at the beginning, polycythemia vera tends to develop later. If the appearance of the main symptoms in young people (aged 25 to 40 years) is observed, then the disease is malignant, that is, the prognosis is unfavorable, and secondary complications develop much faster. Accordingly, the later the development of the disease is observed, the more benign it is. When adequately prescribed drugs are used, the lifespan of patients is significantly improved. Such patients can live normally with their disease for quite a long time (up to several decades).

Answering the question of what the outcome of erythremia could be, it should be noted that it all depends on:

what secondary processes have developed
what are their reasons
how long have they been around
whether polycythemia vera was diagnosed in a timely manner and the necessary treatment was started.

Most often, due to damage to the liver and spleen, polycythemia transitions into the chronic form of myeloblastic leukemia. The lifespan with it remains almost the same, and with the correct selection of drugs it can reach tens of years (the prognosis is relatively

Today we will talk about a blood disease called polycythemia vera. This disease is a pathology in which there is an increased number of red blood cells in the circulating blood. Polycythemia poses a great, sometimes irreversible danger to human life and health, so it is important to recognize the disease by its first signs for timely medical care and competent treatment. Typically, this syndrome is characteristic of people over the age of 50, and is more often diagnosed in males. Let's take a closer look at the disease in all its aspects: etiology, types, diagnosis and main methods of treating polycythemia.

General information about the disease

In modern medicine, polycythemia has several names, for example, Vaquez disease, and it is also sometimes called erythrocytosis. The pathology belongs to the section of chronic leukemia and represents an active increase in the concentration of red blood cells, leukocytes and platelets in the blood; most often, experts classify this disease as a rare type of leukemia. Medical statistics say that polycythemia vera is diagnosed annually in only 5 cases per 1 million patients; the development of pathology is usually typical for older men (from 50 to 65 years old).

The most dangerous complications of the disease include the risk of developing thrombosis and hemorrhagic strokes, as well as the transition of polycythemia to the acute stage of myeloid leukemia or to the chronic stage of myeloid leukemia. This disease is characterized by a number of reasons, which we will consider below. All causes of erythremia are divided into two types: primary and secondary.

Causes of the disease

In modern medicine, the root causes of this pathology include the following:

genetic predisposition to increased production of red blood cells;
failures at the genetic level;
cancer of the bone marrow;
Oxygen deprivation also affects increased production of blood cells.

Most often, erythremia has a tumor factor, characterized by damage to stem cells produced in the red bone marrow. The result of the destruction of these cells is an increase in the level of red blood cells, which directly leads to disruption of the functioning of the entire body. The disease is malignant, difficult to diagnose and takes a long time to treat, and not always with a positive effect; complex therapy is due to the fact that no treatment methods can affect a stem cell that has undergone a mutation, which has a high ability to divide. Polycythemia vera is characterized by the presence of plethora, this is due to the fact that the concentration of red blood cells in the vascular bed is increased.

Patients with polycythemia have purplish-red skin, and patients often complain of itchy skin.

Experts include the following factors as secondary causes of the disease:

obstructive pulmonary pathologies;
pulmonary hypertension;
chronic heart failure;
there is not enough oxygen supply to the kidneys;
a sharp change in climate, and the development of this syndrome is typical for the population living in high mountain areas;
various infections leading to high intoxication of the body;
harmful working conditions, especially for work carried out at height;
the disease also affects people living in environmentally polluted areas, or in close proximity to industries;
excessive smoking;
experts have revealed that a high risk of developing polycythemia is typical for people with Jewish roots, this is due to the genetic characteristics of the function of the red bone marrow;
sleep apnea;
Hypoventilation syndromes lead to polycythemia.

All these factors lead to the fact that hemoglobin is endowed with the ability to actively absorb oxygen, with virtually no return to the tissues of internal organs, which, accordingly, leads to the active production of red blood cells.

It is worth noting that some cancers can also provoke the development of erythremia, for example, tumors of the following organs affect the production of red blood cells:

liver;
kidney;
adrenal glands;
uterus.

Some kidney cysts and obstruction of this organ can increase the secretion of blood cells, leading to the development of polycythemia. Polycythemia sometimes occurs in newborns, this disease is transmitted through the maternal placenta, and there is insufficient oxygen supply to the fetus, as a result of which pathology develops. Next, we will consider the course of polycythemia, its symptoms and treatment, what are the complications of polycythemia disease?

Symptoms of polycythemia

This disease is dangerous because polycythemia vera at the initial stage is practically asymptomatic, the patient does not have any complaints about deteriorating health. Most often, pathology is detected during a blood test; sometimes the first “calls” of polycythemia are associated with colds or simply with a general decrease in performance in older people.

The main signs of erythrocytosis include:

a sharp drop in visual acuity;
frequent migraines;
dizziness;
tinnitus;
sleep problems;
“icy” fingers.

When the pathology enters an advanced stage, the following may be observed with polycythemia:

muscle and bone pain;
Ultrasound often reveals an enlarged spleen or changes in the contours of the liver;
bleeding gums;
for example, when a tooth is removed, the bleeding may not stop for a long time;
Patients often discover new bruises on their body, the origin of which they cannot explain.

Doctors also identify specific symptoms of this disease:

severe skin itching, which increases after taking water procedures;
burning sensation in fingertips;
the appearance of spider veins;
the skin of the face, neck and chest may take on a purplish-red hue;
lips and tongue, on the contrary, may have a bluish tint;
the whites of the eyes tend to turn red;
the patient constantly feels weak.

If we talk about a disease that affects newborns, polycythemia develops a few days after birth. Most often, the pathology is diagnosed in twins; the main signs include:

the baby's skin turns red;
when touching the skin, the child experiences unpleasant sensations and therefore begins to cry;
the baby is born with low weight;
a blood test reveals an increased level of leukocytes, platelets and red blood cells;
Ultrasound shows changes in the size of the liver and spleen.

It is worth noting that if polycythemia is not diagnosed in a timely manner, the development of the disease can be missed, and the lack of therapy can lead to the death of the newborn.

Diagnosis of the disease

As mentioned above, most often polycythemia vera is detected during a preventive blood test. Experts diagnose erythrocytosis if blood tests show levels above normal:

hemoglobin level increased to 240 g/l;
the level of red blood cells is increased to 7.5x10 12 /l;
leukocyte level increased to 12x10 9 /l;
platelet level increased to 400x10 9 /l.

To study the function of red bone marrow, a trephine biopsy procedure is used, because it is the disruption of the production of stem cells that provokes the development of polycythemia. To exclude other diseases, specialists can use studies such as ultrasound, urinalysis, FGDS, ultrasound, etc. The patient is also prescribed consultations with specialized specialists: a neurologist, cardiologist, urologist, etc. If a patient is diagnosed with polycythemia, what is the treatment for this disease, consider the main methods.

Treatment of erythrocytosis

This disease is one of those types of pathology that are treated with myelosuppressive drugs. Polycythemia vera is also treated using bloodletting methods; this type of therapy can be prescribed to patients who have not reached 45 years of age. The essence of the procedure is that up to 500 ml of blood per day is taken from the patient; elderly people with polycythemia also undergo phlebotomy, but no more than 250 ml of blood is taken per day.

If a patient with this disease experiences severe skin itching and hypermetabolic syndrome, then specialists prescribe a myelosuppressive method of treating polycythemia vera. It includes the following drugs:

radioactive phosphorus;
anagrelide;
interferon;
Hydroxyurea.

In case of remission with polycythemia, the patient is prescribed repeated blood tests no more than once every 14 days, then the study is carried out once a month. When the level of red blood cells returns to normal, the drugs begin to be gradually discontinued, drug therapy alternates with a rest from the drugs, and the course of the disease is strictly monitored. But it is worth noting that the use of myelosuppressive drugs for polycythemia can lead to the development of leukemia, so specialists prescribe them after lengthy detailed studies. Sometimes side effects such as skin ulcers, gastrointestinal disturbances, and fever occur; if this occurs, the medications are immediately discontinued.

The patient should also take Aspirin daily to reduce the risk of thrombosis, which often complicates the course of this disease.

A patient with polycythemia is also advised to undergo a procedure called erythrocytophoresis, which consists of a device pumping out blood from the patient while simultaneously removing excess red blood cells from it. Afterwards, in order to restore the previous volume, the patient is infused with saline solution. This procedure is a modern type of bloodletting, but it is carried out no more than once every 2-3 years. Treatment of polycythemia will not protect the patient from possible complications that may develop against the background of this pathology.

Complications of polycythemia

Experts note the following complications that accompany the development of polycythemia vera:

urine may acquire a strong and unpleasant odor;
often patients with polycythemia suffer from gout;
with polycythemia, kidney stones can form;
renal colic becomes chronic;
erythrocytosis is often accompanied by a stomach or duodenal ulcer;
impaired circulatory function can lead to the formation of skin ulcers;
often this disease provokes thrombosis;
bleeding gums, frequent nosebleeds.

Preventive measures

The development of a disease such as polycythemia can be prevented; it is necessary to adhere to the following preventive measures:

completely abandon bad habits, especially smoking cigarettes, it is nicotine that harms the body and provokes this disease;
if the area is unfavorable for living, then it is better to change your place of residence;
the same applies to work;
regularly take preventive blood tests, which can show whether the patient has polycythemia;
It is necessary to take a responsible approach to your diet, it is better to limit your meat consumption, include in your diet those foods that stimulate the function of hematopoiesis, and give preference to fermented milk and plant products.

Remember that timely diagnosis and proper treatment of polycythemia can prevent the development of complications with this disease, but, unfortunately, with this disease there is no guarantee of a complete cure.

Polycythemia vera (erythremia, Vaquez disease or primary polycythemia) is a progressive malignant disease belonging to the group of leukemias, which is associated with hyperplasia of the cellular elements of the bone marrow (myeloproliferation). The pathological process primarily affects the erythroblastic germ, so an excess number of red blood cells is detected in the blood. An increase in the number of neutrophilic leukocytes and platelets is also observed.

ICD-10	D45
ICD-9	238.4
ICD-O	M9950/3
MedlinePlus	000589
MeSH	D011087

An increased number of red blood cells increases blood viscosity, increases its mass, causes a slowdown in blood flow in the vessels and the formation of blood clots. As a result, patients develop impaired blood supply and hypoxia.

General information

Polycythemia vera was first described in 1892 by French and Vaquez. Vaquez suggested that the hepatosplenomegaly and erythrocytosis detected in his patient arose as a result of increased proliferation of hematopoietic cells, and identified erythremia as a separate nosological form.

In 1903, W. Osler used the term “Vaquez disease” to describe patients with splenomegaly (enlarged spleen) and severe erythrocytosis and gave a detailed description of the disease.

Turk (W. Turk) in 1902-1904 suggested that in this disease the disorder of hematopoiesis is hyperplastic in nature, and called the disease erythremia by analogy with leukemia.

The clonal neoplastic nature of myeloproliferation, which is observed in polycythemia, was proven in 1980 by P. J. Fialkov. He discovered one type of enzyme, glucose-6-phosphate dehydrogenase, in red blood cells, granulocytes and platelets. In addition, both types of this enzyme were detected in the lymphocytes of two patients heterozygous for this enzyme. Thanks to Fialkov's research, it became clear that the target of the neoplastic process is the precursor cell of myelopoiesis.

In 1980, a number of researchers managed to separate the neoplastic clone from normal cells. It has been experimentally proven that with polycythemia, a population of erythroid committed precursors is formed that have pathologically high sensitivity even to small amounts of erythropoietin (kidney hormone). According to scientists, this contributes to increased formation of red blood cells in polycythemia vera.

In 1981, L. D. Sidorova and co-authors conducted studies that made it possible to detect qualitative and quantitative changes in the platelet component of hemostasis, which play a major role in the development of hemorrhagic and thrombotic complications in polycythemia.

Polycythemia vera is detected mainly in older people, but can be observed in young people and children. In young people, the disease is more severe. The average age of patients varies from 50 to 70 years. The average age of those who become ill for the first time is gradually increasing (in 1912 it was 44 years, and in 1964 - 60 years). The number of patients under 40 years of age is about 5%, and erythremia in children and patients under 20 years of age is detected in 0.1% of all cases of the disease.

Erythremia is slightly less common in women than in men (1: 1.2-1.5).

It is the most common disease in the group of chronic myeloproliferative diseases. It is quite rare - according to various sources, from 5 to 29 cases per 100,000 population.

There is isolated data on the influence of racial factors (above the average among Jews and below the average among representatives of the Negroid race), but at the moment this assumption has not been confirmed.

Forms

Polycythemia vera is divided into:

Primary (not a consequence of other diseases).
Secondary. It can be triggered by chronic lung disease, hydronephrosis, the presence of tumors (uterine fibroids, etc.), the presence of abnormal hemoglobins and other factors associated with tissue hypoxia.

An absolute increase in erythrocyte mass is observed in all patients, but only in 2/3 the number of leukocytes and platelets also increases.

Reasons for development

The causes of polycythemia vera have not been definitively established. Currently, there is no single theory that would explain the occurrence of hemoblastoses (blood tumors), to which this disease belongs.

Based on epidemiological observations, a theory was put forward about the connection of erythremia with the transformation of stem cells, which occurs under the influence of gene mutations.

It has been established that most patients have a mutation in the enzyme Janus kinase-tyrosine kinase, synthesized in the liver, which is involved in the transcription of certain genes by phosphorylating many tyrosines in the cytoplasmic part of the receptors.

The most common mutation, discovered in 2005, is in exon 14 JAK2V617F (detected in 96% of all cases of the disease). In 2% of cases, the mutation affects exon 12 of the JAK2 gene.

Patients with polycythemia vera also have:

In some cases, mutations in the thrombopoietin receptor gene MPL. These mutations are of secondary origin and are not strictly specific for this disease. They are detected in older people (mainly women) with low levels of hemoglobin and platelets.
Loss of function of the LNK gene protein SH2B3, which reduces the activity of the JAK2 gene.

Elderly patients with a high JAK2V617F allelic load are characterized by elevated hemoglobin levels, leukocytosis and thrombocytopenia.

With a mutation of the JAK2 gene in exon 12, erythremia is accompanied by a subnormal serum level of the hormone erythropoietin. Patients with this mutation are younger.
In polycythemia vera, mutations of TET2, IDH, ASXL1, DNMT3A, etc. are also often detected, but their pathogenetic significance has not yet been studied.

There were no differences in survival of patients with different types of mutations.

As a result of molecular genetic disorders, the JAK-STAT signaling pathway is activated, which is manifested by proliferation (cell production) of the myeloid lineage. At the same time, proliferation and an increase in the number of red blood cells in the peripheral blood increase (an increase in the number of leukocytes and platelets is also possible).

The identified mutations are inherited in an autosomal recessive manner.

There is also a hypothesis according to which the cause of erythremia may be viruses (15 types of such viruses have been identified), which, in the presence of predisposing factors and weakened immunity, penetrate into immature bone marrow cells or lymph nodes. Cells affected by the virus begin to actively divide instead of maturing, thus starting the pathological process.

Factors that provoke the disease include:

X-ray irradiation, ionizing radiation;
paints, varnishes and other toxic substances that penetrate the human body;
long-term use of certain medications for medicinal purposes (gold salts for rheumatoid arthritis, etc.);
viral and intestinal infections, tuberculosis;
surgical interventions;
stressful situations.

Secondary erythremia develops under the influence of favorable factors when:

high innate affinity of hemoglobin for oxygen;
low levels of 2,3-diphosphoglycerate;
autonomous production of erythropoietin;
arterial hypoxemia of a physiological and pathological nature (“blue” heart defects, smoking, adaptation to high altitude conditions and chronic lung diseases);
kidney diseases (cystic lesions, hydronephrosis, renal artery stenosis and diffuse diseases of the renal parenchyma);
the presence of tumors (possibly influenced by bronchial carcinoma, cerebellar hemangioblastoma, uterine fibroids);
endocrine diseases associated with adrenal tumors;
liver diseases (cirrhosis, hepatitis, hepatoma, Budd-Chiari syndrome);
tuberculosis.

Pathogenesis

The pathogenesis of polycythemia vera is associated with a disruption of the process of hematopoiesis (hematopoiesis) at the level of the precursor cell. Hematopoiesis acquires the unlimited proliferation of progenitor cells characteristic of a tumor, the descendants of which form a specialized phenotype in all hematopoietic lineages.

Polycythemia vera is characterized by the formation of erythroid colonies in the absence of exogenous erythropoietin (the appearance of endogenous erythropoietin-independent colonies is a sign that distinguishes erythremia from secondary erythrocytosis).

The formation of erythroid colonies indicates a disruption in the implementation of regulatory signals that the myeloid cell receives from the external environment.

The basis of the pathogenesis of polycythemia vera is defects in genes encoding proteins that are responsible for maintaining myelopoiesis within the normal range.

A decrease in oxygen concentration in the blood causes a reaction in the interstitial cells of the kidneys that synthesize erythropoietin. The process occurring in interstitial cells concerns the work of many genes. The main regulation of this process is carried out by factor-1 (HIF-1), which is a heterodimeric protein consisting of two subunits (HIF-1alpha and HIF-1beta).

If the oxygen concentration in the blood is within normal limits, proline residues (the heterocyclic amino acid of the freely existing HIF-1 molecule) are hydroxylated under the influence of the regulatory enzyme PHD2 (molecular oxygen sensor). Thanks to hydroxylation, the HIF-1 subunit acquires the ability to bind to the VHL protein, which provides tumor prevention.

The VHL protein forms a complex with a number of E3 ubiquitin ligase proteins, which, after forming covalent bonds with other proteins, are sent to the proteasome and destroyed there.

During hypoxia, hydroxylation of the HIF-1 molecule does not occur; the subunits of this protein combine and form the heterodimeric HIF-1 protein, which travels from the cytoplasm to the nucleus. Once in the nucleus, the protein binds to special DNA sequences in the promoter regions of genes (the conversion of genes into protein or RNA is induced by hypoxia). As a result of these transformations, erythropoietin is released into the bloodstream by the interstitial cells of the kidneys.

Myelopoiesis precursor cells carry out the genetic program embedded in them as a result of the stimulating effect of cytokines (these small peptide control (signal) molecules bind to the corresponding receptors on the surface of the precursor cells).

When erythropoietin binds to the erythropoietin receptor EPO-R, dimerization of this receptor occurs, which activates Jak2, a kinase associated with the intracellular domains of EPO-R.

Jak2 kinase is responsible for signal transmission from erythropoietin, thrombopoietin and G-CSF (granulocyte colony-stimulating factor).

Due to the activation of Jak2-kinase, phospholation of a number of cytoplasmic target proteins occurs, which includes adapter proteins of the STAT family.

Erythremia was detected in 30% of patients with constitutive activation of the STAT3 gene.

Also, with erythremia, in some cases, a reduced level of expression of the thrombopoietin receptor MPL is detected, which is compensatory in nature. The decrease in MPL expression is secondary and is caused by a genetic defect responsible for the development of polycythemia vera.

A decrease in degradation and an increase in the level of the HIF-1 factor is caused by defects in the VHL gene (for example, representatives of the population of Chuvashia are characterized by a homozygous mutation 598C>T of this gene).

Polycythemia vera can be caused by abnormalities of chromosome 9, but the most common is a deletion of the long arm of chromosome 20.

In 2005, a point mutation in exon 14 of the Jak2 kinase gene (mutation JAK2V617F) was identified, which causes the replacement of the amino acid valine with phenylalanine in the pseudokinase domain JH2 of the JAK2 protein at position 617.

The JAK2V617F mutation in hematopoietic precursor cells in erythremia is presented in a homozygous form (the formation of the homozygous form is affected by mitotic recombination and duplication of the mutant allele).

When JAK2V617F and STAT5 are active, the level of reactive oxygen species increases, resulting in a transition of the cell cycle from the G1 to S phase. The adapter protein STAT5 and reactive oxygen species transmit a regulatory signal from JAK2V617F to the cyclin D2 and p27kip genes, which causes an accelerated transition of the cell cycle from phase G1 to S. As a result, the proliferation of erythroid cells that carry a mutant form of the JAK2 gene increases.

In JAK2V617F-positive patients, this mutation is detected in myeloid cells, B- and T-lymphocytes and natural killer cells, which proves the proliferative advantage of defective cells compared to the norm.

Polycythemia vera in most cases is characterized by a fairly low ratio of mutant to normal allele in mature myeloid cells and early precursors. In the presence of clonal dominance, patients have a more severe clinical picture compared to patients without this defect.

Symptoms

Symptoms of polycythemia vera are associated with excess production of red blood cells, which increase blood viscosity. In most patients, the level of platelets, which cause vascular thrombosis, also increases.

The disease develops very slowly and is asymptomatic at the initial stage.
At later stages, polycythemia vera manifests itself:

plethoric syndrome, which is associated with increased blood supply to organs;
myeloproliferative syndrome, which occurs with increased production of red blood cells, platelets and leukocytes.

Plethoric syndrome is accompanied by:

Headaches.
Feeling of heaviness in the head;
Dizziness.
Attacks of pressing, squeezing pain behind the sternum, which occurs during physical activity.
Erythrocyanosis (redness of the skin to a cherry tint and a bluish tint of the tongue and lips).
Redness of the eyes, which occurs as a result of dilation of blood vessels in them.
A feeling of heaviness in the upper abdomen (left), which occurs as a result of an enlarged spleen.
Skin itching, which is observed in 40% of patients (a specific sign of the disease). It intensifies after water procedures and occurs as a result of irritation by the breakdown products of red blood cells of the nerve endings.
An increase in blood pressure, which decreases well with bloodletting and decreases slightly with standard treatment.
Erythromelalgia (sharp, burning pain in the fingertips that is relieved by taking blood thinners, or painful swelling and redness of the foot or lower third of the leg).

Myeloproliferative syndrome manifests itself:

soreness in flat bones and joint pain;
a feeling of heaviness in the right upper abdomen as a result of an enlarged liver;
general weakness and increased fatigue;
increase in body temperature.

Varicose veins are also observed, especially noticeable in the neck area, Cooperman's sign (change in color of the soft palate with normal coloration of the hard palate), duodenal ulcer and, in some cases, stomach, bleeding of the gums and esophagus, and increased uric acid levels. The development of heart failure and cardiosclerosis is possible.

Stages of the disease

Polycythemia vera is characterized by three stages of development:

Initial, stage I, which lasts about 5 years (a longer period is possible). It is characterized by moderate manifestations of plethoric syndrome, the size of the spleen does not exceed the norm. A general blood test reveals a moderate increase in the number of red blood cells; increased formation of red blood cells is observed in the bone marrow (an increase in the number of all blood cells, with the exception of lymphocytes, is also possible). At this stage, complications practically do not arise.
The second stage, which can be polycythemic (II A) and polycythemic with myeloid metaplasia of the spleen (II B). Form II A, lasting from 5 to 15 years, is accompanied by severe plethoric syndrome, enlargement of the liver and spleen, the presence of thrombosis, and bleeding. Tumor growth in the spleen is not detected. Possible iron deficiency due to frequent bleeding. A general blood test reveals an increase in the number of red blood cells, platelets and leukocytes. Scar changes are observed in the bone marrow. Form II B is characterized by progressive enlargement of the liver and spleen, the presence of tumor growth in the spleen, thrombosis, general exhaustion, and bleeding. A complete blood count can detect an increase in the number of all blood cells, with the exception of lymphocytes. Red blood cells take on different sizes and shapes, and immature blood cells appear. Scar changes in the bone marrow gradually increase.
Anemic, stage III, which develops 15-20 years after the onset of the disease and is accompanied by a pronounced enlargement of the liver and spleen, extensive scar changes in the bone marrow, circulatory disorders, a decrease in the number of red blood cells, platelets and leukocytes. Transformation into acute or chronic leukemia is possible.

Diagnostics

Erythremia is diagnosed based on:

Analysis of complaints, medical history and family history, during which the doctor clarifies when the symptoms of the disease appeared, what chronic diseases the patient has, whether there was contact with toxic substances, etc.
Data from a physical examination, which pays attention to the color of the skin. During palpation and with the help of percussion (tapping), the size of the liver and spleen is determined, pulse and blood pressure are also measured (may be elevated).
A blood test that determines the number of red blood cells (the norm is 4.0-5.5x109 g/l), leukocytes (can be normal, increased or decreased), platelets (at the initial stage does not deviate from the norm, then an increase in the level is observed, and then a decrease ), hemoglobin level, color indicator (usually the norm is 0.86-1.05). ESR (erythrocyte sedimentation rate) is reduced in most cases.
Urinalysis, which allows you to identify concomitant diseases or the presence of renal bleeding.
A biochemical blood test that reveals the increased level of uric acid characteristic of many cases of the disease. To identify organ damage accompanying the disease, the level of cholesterol, glucose, etc. is also determined.
Data from a bone marrow study, which is performed using a puncture in the sternum and reveals increased production of red blood cells, platelets and leukocytes, as well as the formation of scar tissue in the bone marrow.
Trepanobiopsy data, which most fully reflect the condition of the bone marrow. For examination, using a special trephine device, a column of bone marrow is taken from the wing of the ilium along with the bone and periosteum.

A coagulogram, iron metabolism studies are also performed, and the level of erythropoietin in the blood serum is determined.

Since chronic erythremia is accompanied by an enlargement of the liver and spleen, an ultrasound of the internal organs is performed. Ultrasound also detects the presence of hemorrhages.

To assess the extent of the tumor process, SCT (spiral computed tomography) and MRI (magnetic resonance imaging) are performed.

To identify genetic abnormalities, a molecular genetic study of peripheral blood is performed.

Treatment

The goals of treatment for polycythemia vera are:

prevention and treatment of thrombohemorrhagic complications;
elimination of symptoms of the disease;
reducing the risk of complications and development of acute leukemia.

Erythremia is treated with:

Bloodletting, in which 200-400 ml of blood is removed to reduce blood viscosity in young people and 100 ml of blood in case of concomitant heart diseases or in the elderly. The course consists of 3 procedures, which are carried out at intervals of 2-3 days. Before the procedure, the patient takes medications that reduce blood clotting. Bloodletting is not performed in the presence of recent thrombosis.
Hardware treatment methods (erythrocytapheresis), which remove excess red blood cells and platelets. The procedure is carried out at intervals of 5-7 days.
Chemotherapy, which is used at stage II B, in the presence of an increase in the number of all blood cells, poor tolerance to bloodletting, or the presence of complications from internal organs or blood vessels. Chemotherapy is carried out according to a special regimen.
Symptomatic therapy, including antihypertensive drugs for high blood pressure (ACE inhibitors are usually prescribed), antihistamines to reduce skin itching, antiplatelet agents that reduce blood clotting, hemostatic drugs for bleeding.

To prevent thrombosis, anticoagulants are used (usually acetylsalicylic acid is prescribed at 40-325 mg/day).

Nutrition for erythremia must comply with the requirements of the treatment table according to Pevzner No. 6 (the amount of protein foods is reduced, red fruits and vegetables and foods containing dyes are excluded).

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